Article

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants

2023-01-31

Abstract excerpt

Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model where genetically controlled mRNA splicing modulates the pathogenicity of exonic variants. By first cataloging exonic inclusion from RNA-seq data in GTEx v8, we find that pathogeni...

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Literature Corpus work: ed011e74-0baa-5f61-984f-d0b64e8a23c8
DOI: 10.1101/2023.01.31.526505

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